Keratoderma, Palmoplantar, with Deafness (PPKDFN)

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OMIM 57 148350 Orphanet 59 ORPHA2202 MESH via Orphanet 45 C536152 UMLS via Orphanet 74 C1835672 ICD10 via Orphanet 34 Q82.8

MedGen 42 C1835672 MeSH 44 D007645 KEGG 37 H00716 SNOMED-CT via HPO 69 263681008 103276001 15188001 343087000 95828007 60700002 706885006 more UMLS 73 C1835672

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2202Disease definitionPalmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma with deafness, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and palmoplantar keratosis. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Genetics Home Reference : ²⁵ Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.

UniProtKB/Swiss-Prot : ⁷⁵ Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

Description from OMIM: 148350

Clinical features from OMIM:

148350

Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Deafness

Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.